Interleukin-1 receptor antagonist deficiency with a novel mutation; Late onset and successful treatment with canakinumab: A case report

Journal of Medical Case Reports

Volumn 9, Issue 1, 2015, Pages

  Ulusoy, Ezgi ^a   Karaca, Neslihan Edeer ^a   El Shanti, Hatem ^b   Kilicoglu, Erhan ^a   Aksu, Guzide ^a   Kutukculer, Necil ^a  

^a EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^b HAMAD BIN KHALIFA UNIVERSITY   (Qatar)

Author keywords

Autoinflammation; Canakinumab; Interleukin 1 receptor antagonist deficiency

Indexed keywords

CANAKINUMAB; IL1RN PROTEIN, HUMAN; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; MONOCLONAL ANTIBODY;

CASE REPORT; CHILD; FEMALE; GENETICS; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMAN; MUTATION; TREATMENT OUTCOME; TURKEY;

ANTIBODIES, MONOCLONAL; CHILD; FEMALE; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; MUTATION; TREATMENT OUTCOME; TURKEY;

EID: 84936774298     PISSN: None     EISSN: 17521947     Source Type: Journal    
DOI: 10.1186/s13256-015-0618-4     Document Type: Article

References (17)

1. Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009;360(23):2426-37.
2. Altiok E, Aksoy F, Perk Y, Taylan F, Kim PW, Ilikkan B, et al. A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset. Clin Immunol. 2012;145(1):77-81.
3. Gabay C, Lamacchia C, Palmer G. IL-1 pathways in inflammation and human diseases. Nat Rev Rheumatol. 2010;6(4):232-41.
4. Hoffman HM, Wanderer AA. Inflammasome and IL-1β-mediated disorders. Curr Allergy Asthma Rep. 2010;10:229-35.
5. Gross O, Thomas EJ, Guarda G, Tschopp J. The inflammasome: an integrated view. Immunol Rev. 2011;243(1):136-51.
6. Goldbach-Mansky R. Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1. Clin Exp Immunol. 2012;167(3):391-404.
7. Stenerson M, Dufendach K, Aksentijevich I, Brady J, Austin J, Reed AM. The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist. Arthritis Rheum. 2011;63(12):4018-22.
8. Minkis K, Aksentijevich I, Goldbach-Mansky R, Magro C, Scott R, Davis JG, et al. Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis. Arch Dermatol. 2012;148(6):747-52.
9. Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med. 2009;360(23):2438-44.
10. Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002;46(12):3340-8.
11. Thacker PG, Binkovitz LA, Thomas KB. Deficiency of interleukin-1-receptor antagonist syndrome: a rare auto-inflammatory condition that mimics multiple classic radiographic findings. Pediatr Radiol. 2012;42(4):495-8.
12. Jesus AA, Osman M, Silva CA, Kim PW, Pham TH, Gadina M, et al. A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil. Arthritis Rheum. 2011;63(12):4007-17.
13. Schnellbacher C, Ciocca G, Menendez R, AksentijevichI I, Goldbach-Mansky R, Duarte AM, et al. Deficiency of interleukin-1 receptor antagonist responsive to anakinra. Pediatr Dermatol. 2013;30(6):758-60.
14. Almeida de Jesus A, Goldbach-Mansky R. Monogenic autoinflammatory diseases: concept and clinical manifestations. Clin Immunol. 2013;14(3):155-74.
15. Brau-Javier CN, Gonzales-Chavez J, Toro JR. Chronic cutaneous pustulosis due to a 175-kb deletion on chromosome 2q13: excellent response to anakinra. Arch Dermatol. 2012;148(3):301-4.
16. Sakran W, Shalev SA, El-Shanti H, Uziel Y. Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist. Pediatr Infect Dis J. 2013;32(1):94.
17. Dinarello CA, van der Meer JW. Treating inflammation by blocking interleukin-1 in humans. Semin Immunol. 2013;25(6):469-84.